Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG44
Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.
Abrams CK
Biomolecules, 2023
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
Gall K et al.
Plos One, 2021
34469436 (PubMed )
Supplement: pone.0255933.s002.pdf
Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398].
Gotoh L et al.
Molecular Genetics and Metabolism, 2016
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.
Gotoh L et al.
Molecular Genetics and Metabolism, 2014
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